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Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy.
Gragnaniello V, Gueraldi D, Puma A, Commone A, Cazzorla C, Loro C, Porcù E, Stornaiuolo M, Miglioranza P, Salviati L, Wanders RJA, Burlina A. Gragnaniello V, et al. Among authors: loro c. Orphanet J Rare Dis. 2023 Nov 16;18(1):358. doi: 10.1186/s13023-023-02940-x. Orphanet J Rare Dis. 2023. PMID: 37974207 Free PMC article.
Long-term follow-up of a patient with neonatal form of Gaucher disease.
Gragnaniello V, Cazzorla C, Gueraldi D, Loro C, Massa P, Puma A, Cananzi M, Salviati L, Burlina AP, Burlina AB. Gragnaniello V, et al. Among authors: loro c. Am J Med Genet A. 2023 Jul;191(7):1917-1922. doi: 10.1002/ajmg.a.63196. Epub 2023 Apr 3. Am J Med Genet A. 2023. PMID: 37009750
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